Genomes and Genes
Gene Symbol: RPE65
Description: retinal pigment epithelium-specific protein 65kDa
Alias: BCO3, LCA2, RP20, mRPE65, rd12, sRPE65, BCO family, member 3, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, p63, retinal pigment epithelium-specific 65 kDa protein, retinitis pigmentosa 20 (autosomal recessive), retinoid isomerohydrolase, retinol isomerase
Publications163 found, 100 shown here
- Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroupsQuan Yuan
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
J Biol Chem 285:988-99. 2010..The critical isomerization step in this pathway is catalyzed by Rpe65. Rpe65 is strongly associated with membranes but contains no membrane-spanning segments...
- Deletion of GRK1 causes retina degeneration through a transducin-independent mechanismJie Fan
Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
J Neurosci 30:2496-503. 2010b>Rpe65(-/-) mice are unable to produce 11-cis-retinal, the chromophore of visual pigments. Consequently, the pigment is present as the apoprotein opsin with a minute level of pigment containing 9-cis-retinal as chromophore...
- Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialWilliam W Hauswirth
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Hum Gene Ther 19:979-90. 2008..One molecular form is caused by mutations in the RPE65 (retinal pigment epithelium-specific 65-kDa) gene...
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosisH Morimura
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 95:3088-93. 1998b>RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium...
- Mutations in RPE65 cause Leber's congenital amaurosisF Marlhens
Nat Genet 17:139-41. 1997
- The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosisRichard G Weleber
Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
Invest Ophthalmol Vis Sci 52:292-302. 2011To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65.
- Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneF Marlhens
Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
Eur J Hum Genet 6:527-31. 1998..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..
- Clinical course and visual function in a family with mutations in the RPE65 geneJoost Felius
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
Arch Ophthalmol 120:55-61. 2002To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene).
- Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutationsKholoud Al-Khayer
Center for Genetic Eye Diseases, Cole Eye Institute, Cleaveland Clinic Foundation, Ohio 44195, USA
Am J Ophthalmol 137:375-7. 2004To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene.
- Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65Olga Nikolaeva
Department of Medicine Endocrinology, Harold Hamm Oklahoma Diabetes Center, The University of Oklahoma Health Sciences Center, 941 Stanton L Young Blvd, BSEB302, Oklahoma City, OK 73104, United States
Biochem Biophys Res Commun 391:1757-61. 2010b>RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments...
- Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosisGandra Mamatha
Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
Ophthalmic Genet 29:73-8. 2008To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA).
- Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitroC P Hamel
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
J Biol Chem 268:15751-7. 1993..microsomal membranes of the vertebrate retinal pigment epithelium (RPE) contain an RPE-specific 65-kDa protein, RPE65, which bears the determinant recognized by the strictly tissue-specific monoclonal antibody RPE9, and which is ..
- Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophyS M Gu
Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
Nat Genet 17:194-7. 1997..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...
- Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 geneLeila el Matri
Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
Graefes Arch Clin Exp Ophthalmol 244:1104-12. 2006..To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD)...
- RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseasesBiju Joseph
Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India
J Genet 81:19-23. 2002We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyDebra A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA
Am J Hum Genet 70:224-9. 2002..We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14...
- Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epitheliumA Nicoletti
Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
Hum Mol Genet 4:641-9. 1995The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific...
- Mutation analysis of 3 genes in patients with Leber congenital amaurosisA J Lotery
Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
Arch Ophthalmol 118:538-43. 2000To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA).
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsFrancesca Simonelli
Department of Ophthalmology, Second University of Naples, Naples, Italy
Invest Ophthalmol Vis Sci 48:4284-90. 2007..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
- Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activityYusuke Takahashi
Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
J Biol Chem 281:21820-6. 2006b>RPE65 is the isomerohydrolase in the retinoid visual cycle essential for recycling of 11-cis retinal, the chromophore for visual pigments in both rod and cone photoreceptors...
- Systemic aminoglycoside treatment in rodent models of retinitis pigmentosaK Guerin
Vision Science, University of California, Berkeley, CA 94720, USA
Exp Eye Res 87:197-207. 2008..in rhodopsin (S334ter); and a mouse model of recessive disease (rd12) caused by a PTC in the retinoid isomerase Rpe65. Initial luciferase reporter assays were undertaken to measure the efficiency of gentamicin-induced read-through ..
- Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutationGeoffrey K Aguirre
Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
PLoS Med 4:e230. 2007b>RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA)...
- Acute radiolabeling of retinoids in eye tissues of normal and rpe65-deficient miceNasser M Qtaishat
Lions of Illinois Eye Research Institute, Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Invest Ophthalmol Vis Sci 44:1435-46. 2003Mice with a targeted disruption of the gene encoding RPE65, a protein ordinarily highly expressed in the retinal pigment epithelium (RPE), accumulate abnormally high levels of all-trans retinyl ester in the RPE and exhibit very little 11-..
- Differential neuroglycan C expression during retinal degeneration in Rpe65-/- micePascal Escher
Institute for Research in Ophthalmology, Sion, Switzerland
Mol Vis 14:2126-35. 2008..and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a targeted disruption of the Rpe65 gene (Rpe65-/- mouse)...
- Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) miceCorinne Kostic
Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
PLoS ONE 6:e16588. 2011..Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in ..
- Dominant negative p63 isoform expression in head and neck squamous cell carcinomaJoseph C Sniezek
Department of Otolaryngology Head and Neck Surgery, Tripler Army Medical Center, 1 Jarrett White Road, Honolulu, HI 96859 5000, USA
Laryngoscope 114:2063-72. 2004b>p63, a member of the p53 family of genes, is vital for normal epithelial development and may play a critical role in epithelial tumor formation...
- Reconstruction of ionic currents in a molluscan photoreceptorM Sakakibara
Department of Biological Science and Technology, School of High Tecnology for Human Welfare, Tokai University, Shizuoka, Japan
Biophys J 65:519-27. 1993..Based on these reconstructions of ionic currents, learning-induced enhancement of the long lasting depolarization (LLD) of the photoreceptor'slight response was shown to arise from progressive inactivation of /A, lca2+ -K+, and lCa2+.
- Giant cell tumor of bone express p63Brendan C Dickson
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
Mod Pathol 21:369-75. 2008b>p63 contributes to skeletal development and tumor formation; however, little is known regarding its activity in the context of bone and soft tissue neoplasms...
- Comparison of the basal cell-specific markers, 34betaE12 and p63, in the diagnosis of prostate cancerRajal B Shah
Deparment of Pathology and Urology, University of Michigan School of Medicine and Comprenhensive Cancer Center, Ann Arbor, Michigan 48109, USA
Am J Surg Pathol 26:1161-8. 2002..A recently identified basal cell marker p63, a p53 homologue, stains basal cell nuclei but not secretory cells...
- Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disordersJ N Glickman
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Pathol 32:1157-65. 2001b>p63 is a p53-related DNA-binding protein that helps regulate differentiation and proliferation in epithelial progenitor cells. Its expression has never been evaluated in the human gastrointestinal tract...
- Immunophenotypic overlap between adenoid cystic carcinoma and collagenous spherulosis of the breast: potential diagnostic pitfalls using myoepithelial markersJoseph T Rabban
Department of Pathology, University of California, San Francisco, CA 94143, USA
Mod Pathol 19:1351-7. 2006..The diagnosis may be even more challenging in needle core biopsies. Immunohistochemical expression of p63 and c-kit distinguishes adenoid cystic carcinoma from invasive cribriform carcinoma and ductal carcinoma in situ...
- Assessment of p63 expression in the salivary gland neoplasms adenoid cystic carcinoma, polymorphous low-grade adenocarcinoma, and basal cell and canalicular adenomasPaul C Edwards
Department of Dental Medicine, Division of Oral Pathology, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97:613-9. 2004The purpose of this study was to determine the extent of p63 immunoreactivity in the malignant salivary gland neoplasms adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA) and to compare this to the expression ..
- Gene expression profiling identifies p63 as a diagnostic marker for giant cell tumor of the boneCheng Han Lee
Department of Pathology, Stanford University, Stanford, CA, USA
Mod Pathol 21:531-9. 2008..types, and significance analysis of microarray identified several genes including TP73L (encoding the p63 protein) that are significantly highly expressed in GCTOB relative to these other tumors...
- Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dogKristina Narfstrom
Vision Science Group, Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
Invest Ophthalmol Vis Sci 44:1663-72. 2003To assess the efficacy of AAV-mediated gene therapy to restore vision in a large number of RPE65(-/-) dogs and to determine whether systemic and local side effects are caused by the treatment.
- The use of p63 as an effective immunomarker in the diagnosis of pulmonary squamous cell carcinomas on de-stained bronchial lavage cytological smearsM Uke
Division of Cytology, Tata Memorial Hospital, Mumbai, India
Cytopathology 21:56-63. 2010..Lately, p63 antibody has been used for distinguishing squamous cell carcinoma from SCLC and adenocarcinoma...
- Expression of p63 in anaplastic large cell lymphoma but not in classical Hodgkin's lymphomaGabriela Gualco
Consultoria em Patologia, 18602 010 Botucatu, Sao Paulo, Brazil
Hum Pathol 39:1505-10. 2008Immunohistochemical determination of p63 protein is frequently used in the pathologic diagnosis of nonhematological solid tumors...
- An immunohistochemical study of cervical neuroendocrine carcinomas: Neoplasms that are commonly TTF1 positive and which may express CK20 and P63W Glenn McCluggage
Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland
Am J Surg Pathol 34:525-32. 2010..Cases were stained with AE1/3, chromogranin, CD56, synaptophysin, PGP9.5, TTF1, p16, p63, CK7, CK20, neurofilament, and CD99...
- Identification of a KRAB-zinc finger protein binding to the Rpe65 gene promoterZhongjian Lu
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute NIH, 7 Memorial Drive, Bethesda, MD 20892, USA
Curr Eye Res 31:457-66. 2006We wish to identify transcriptional factors involved in regulation binding to the proximal promoter region of the RPE65 gene that confers RPE-specific expression.
- S-opsin protein is incompletely modified during N-glycan processing in Rpe65(-/-) miceKota Sato
Department of Biochemistry and Biotechnology, Division of Cell Technology, Faculty of Agriculture and Life Science, Hirosaki University, 3 Bunkyo cho, Aomori 036 8561, Japan
Exp Eye Res 91:54-62. 2010Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a key enzyme for the visual cycle in the eye. Rpe65(-/-) mice lack 11-cis-retinal, and show early cone degeneration and mislocalization of cone opsins...
- Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degenerationSéverine Hamann
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
PLoS ONE 4:e6616. 2009Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages...
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001b>p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...
- p63 expression in normal skin and usual cutaneous carcinomasJorge S Reis-Filho
IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Portugal
J Cutan Pathol 29:517-23. 2002b>p63 is a p53 homologue that is mapped to chromosome 3q27. This gene encodes six different isoforms, which have either transactivating or dominant negative effects on p53-reporter genes...
- Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsL L Barrow
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
J Med Genet 39:559-66. 2002..EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families...
- Claudin-1 is a p63 target gene with a crucial role in epithelial developmentTeresa Lopardo
Department of Biomolecular Sciences and Biotechnology, University of Milan, Milan, Italy
PLoS ONE 3:e2715. 2008..b>p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in ..
- Immunohistochemical detection of GLUT1, p63 and phosphorylated histone H1 in head and neck squamous intraepithelial neoplasia: evidence for aberrations in hypoxia-related, cell cycle- and stem-cell-regulatory pathwaysD E Burstein
Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA
Histopathology 48:708-16. 2006..Detection and grading of early squamous intraepithelial neoplasia may at times be problematic. The aim of this study was to examine the ability of immunomarkers GLUT1, phospho-histone H1 and p63 to detect such early lesions.
- Downregulation of p63 upon exposure to bile salts and acid in normal and cancer esophageal cells in cultureSabine Roman
Digestive Physiology, Pavillon H, Hopital Edouard Herriot, Place d Arsonval, 69437 Lyon Cedex 03, France
Am J Physiol Gastrointest Liver Physiol 293:G45-53. 2007b>p63 is a member of the p53 protein family that regulates differentiation and morphogenesis in epithelial tissues and is required for the formation of squamous epithelia...
- Immunohistochemical detection of XIAP and p63 in adenomatous hyperplasia, atypical adenomatous hyperplasia, bronchioloalveolar carcinoma and well-differentiated adenocarcinomaMaoxin Wu
1Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
Mod Pathol 21:553-8. 2008..inhibitor of apoptosis protein (XIAP), the most potent of the inhibitor of apoptosis protein (IAP) family, and p63, a marker of bronchial reserve cells (BRC) and squamous cells, in these entities...
- Partial atrophy on prostate needle biopsy cores: a morphologic and immunohistochemical studyWenle Wang
Department of Pathology, The John Hopkins Medical Institutions, Baltimore, MD 21231, USA
Am J Surg Pathol 32:851-7. 2008..sent to our consultation service in 2006 from a single institution, which frequently uses a triple cocktail stain [p63, high molecular weight cytokeratin (HMWCK), alpha-methyl acyl-Coa racemase (AMACR)]...
- Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epitheliumM L Katz
University of Missouri School of Medicine, Mason Eye Institute, Columbia 65212, USA
Invest Ophthalmol Vis Sci 42:3023-30. 2001..In mice without a functional Rpe65 gene, isomerization of all-trans- to 11-cis-retinol is blocked...
- P63 and cytokeratin8/18 expression in breast, atypical ductal hyperplasia, ductal carcinoma in situ and invasive duct carcinomaMaha M Shamloula
The Department of Pathology, Faculty of Medicine, Tanta University
J Egypt Natl Canc Inst 19:202-10. 2007Background and Purpose : The pattern and distribution of p63 expression as a myoepithelial/basal stem cell marker can be different between atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (..
- Inhibition of epidermal growth factor receptor signaling decreases p63 expression in head and neck squamous carcinoma cellsKeith E Matheny
Vanderbilt Bill Wilkerson Department of Otolaryngology Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Laryngoscope 113:936-9. 2003Both the epidermal growth factor receptor (EGFR) and the p53 homologue p63 are overexpressed in a significant number of cases of head and neck squamous cell carcinoma (HNSCC)...
- p63 promotes cell survival through fatty acid synthaseVenkata Sabbisetti
Department of Pathology, Brigham and Women s Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
PLoS ONE 4:e5877. 2009There is increasing evidence that p63, and specifically DeltaNp63, plays a central role in both development and tumorigenesis by promoting epithelial cell survival...
- Expression of p63 in conjunctival intraepithelial neoplasia and squamous cell carcinomaClaudia Auw-Haedrich
Eye Hospital, Albert Ludwigs University, 79106 Freiburg, Germany
Graefes Arch Clin Exp Ophthalmol 244:96-103. 2006b>p63 is a homologue of the tumour suppressor gene p53, which is expressed in human basal squamous epithelium...
- Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosaNan Kai Wang
Department of Ophthalmology, Columbia University, New York City, NY, USA
Transplantation 89:911-9. 2010To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice.
- Expression of p63 differs in peritoneal endometriosis, endometriomas, adenomyosis, rectovaginal septum endometriosis, and abdominal wall endometriosisOmero B Poli Neto
Department of Surgery, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil
Arch Pathol Lab Med 131:1099-102. 2007..One protein that plays an important role in regulating epithelial proliferation and differentiation is the 63-kDa membrane protein (p63), which is also a marker of basal and reserve cells in the female genital tract.
- Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65Birgit Lorenz
Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Germany
Ophthalmology 111:1585-94. 2004..Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization ..
- p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissueBonnie J Ching
Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
Int J Mol Med 26:861-7. 2010..Several lines of evidence implicate genetic factors in the formation of BEEC. Among them a murine p63+/+ knockout model showed the full picture of classic exstrophy of the bladder and other urogenital defects within ..
- Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosisJi Jing Pang
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Mol Ther 13:565-72. 2006Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a protein responsible for isomerization of all-trans-retinaldehyde to its photoactive 11-cis-retinaldehyde and is essential for the visual cycle...
- Diagnostic utility of immunohistochemical staining for p63, a sensitive marker of prostatic basal cellsMichael H Weinstein
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts, USA
Mod Pathol 15:1302-8. 2002..Thus, a second method of identifying basal cells might prove useful. Selective expression of p63, a homologue of p53, has been demonstrated in prostatic basal cells...
- [Detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer]Tao Yu
Department of Urology, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China
Zhonghua Nan Ke Xue 13:222-5. 2007To investigate the value of detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer (PCa).
- Cytology applications of p63 and TTF-1 immunostaining in differential diagnosis of lung cancersMaoxin Wu
Division of Cytopathology, Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA
Diagn Cytopathol 33:223-7. 2005..We have demonstrated the role of p63 and thyroid transcription factor-1 (TTF-1) in the differential diagnosis of poorly differentiated squamous-cell ..
- Expression of the p63 and Notch signaling systems in rat testes during postnatal development: comparison with their expression levels in the epididymis and vas deferensTetsuo Hayashi
Department of Urology, Saitama Medical Center, Saitama Medical School, 1981 Tsujido, Kamoda, Kawagoe, Saitama 350 8550, Japan
J Androl 25:692-8. 2004..A member of the p53 family of genes, p63, is highly expressed in the basal layers of epithelial tissues and plays a key role in maintaining their cell ..
- Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defectsNadia Lo Iacono
Dulbecco Telethon Institute, Molecular Biotechnology Center, University of Torino, Via Nizza 52, Torino, 10126, Italy
Development 135:1377-88. 2008..SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63, an ectoderm-specific p53-related transcription factor...
- Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and agingBaerbel Rohrer
Department of Ophthalmology Medical University of South Carolina, 167 Ashley Avenue, Charleston, SC 29425, USA
Invest Ophthalmol Vis Sci 44:310-5. 2003b>RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy...
- p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray dataElisabetta Sbisà
Istituto di Tecnologie Biomediche Sede di Bari, CNR, Via Amendola, 122 D 70126 Bari, Italy
BMC Bioinformatics 8:S20. 2007The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, angiogenesis, ..
- Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutantA Bellomaria
Dipartimento di Scienze e Tecnologie Chimiche, University of Rome Tor Vergata, Italy
Cell Cycle 9:3730-9. 2010The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process...
- Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycleT Michael Redmond
Laboratory of Retinal Cell and Molecular Biology and Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 0706, USA
Proc Natl Acad Sci U S A 102:13658-63. 2005b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...
- Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacementKannan Kunchithapautham
Department of Neurosciences, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29425, USA
Invest Ophthalmol Vis Sci 50:4858-64. 2009b>RPE65, a major retinal pigment epithelium protein, is essential in generating 11-cis retinal, the chromophore for all opsins. Without chromophore, cone opsins are mislocalized and cones degenerate rapidly (e.g., Rpe65(-/-) mouse)...
- Quantitative mapping of ion channel regulation by visual cycle activity in rodent photoreceptors in vivoBruce A Berkowitz
Department of Anatomy and Cell Biology, Wayne State University, Detroit, Michigan 48201, USA
Invest Ophthalmol Vis Sci 50:1880-5. 2009..To test the hypothesis that the extent of outer retina uptake of manganese, measured noninvasively with manganese-enhanced MRI (MEMRI), is a quantitative biomarker of photoreceptor ion channel regulation by visual cycle activity...
- p63 expression in benign and malignant breast lesionsD Stefanou
Department of Pathology, University of Ioannina Medical School, Ioannina, Greece
Histol Histopathol 19:465-71. 2004The p63 gene encodes six protein isoforms. The transactivating isoforms have similar actions with p53, while the N-isoforms inhibit transcription activation by p53 and transactivating isoforms...
- Origin of the vertebrate visual cycle: III. Distinct distribution of RPE65 and beta-carotene 15,15'-monooxygenase homologues in Ciona intestinalisNoriko Takimoto
Department of Life Science, Graduate School of Life Science, University of Hyogo, 3 2 1 Kouto, Kamigori, Ako gun, Hyogo 678 1297, Japan
Photochem Photobiol 82:1468-74. 2006..In the present study, we investigated the possible role and evolutionary origin of the BCO/RPE65 family in the visual cycle by analyzing Ci-BCO localization by immunohistochemistry and by identifying a novel ..
- Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effectG D Aguirre
James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 6401, USA
Mol Vis 4:23. 1998To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the ..
- Reassessment of the subcellular localization of p63A Schweizer
Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
J Cell Sci 108:2477-85. 1995b>p63 is a type II integral membrane protein that has previously been suggested to be a resident protein of a membrane network interposed between the ER and the Golgi apparatus...
- Increased expression of p63 and survivin in cholesteatomasH R Park
Department of Pathology, College of Medicine, Hallym University Sacred Heart Hospital, 896 Pyungchon Dong, Anyang, Korea
Acta Otolaryngol 129:268-72. 2009This study showed increased expression of p63 and survivin in cholesteatoma. Our finding indicates a putative role of p63 and survivin in the development of certain cholesteatomas.
- Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosisXia Li
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, People s Republic of China
Invest Ophthalmol Vis Sci 52:7-15. 2011b>RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration...
- Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosisSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Hum Gene Ther 17:845-58. 2006..Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. LCA caused by RPE65 mutations has been studied in animal models and vision has been restored by subretinal delivery of AAV-RPE65 ..
- The expression and diagnostic utility of p63 in the female genital tractOisin Houghton
Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland
Adv Anat Pathol 16:316-21. 2009b>p63 plays a key role in epithelial development in various organs, being expressed in myoepithelial cells and in basal cells of stratified epithelia...
- p40 (ΔNp63) expression in breast disease and its correlation with p63 immunohistochemistrySang Kyum Kim
Department of Pathology, Severance Hospital, Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine South Korea
Int J Clin Exp Pathol 7:1032-41. 2014b>p63 protein is widely used to identify myoepithelial cells in breast disease. There have been no comparative studies of the p63 antibodies which detect different isoforms...
- Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophyFiroz Kabir
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
Mol Vis 19:1554-64. 2013..To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families...
- p63: a novel myoepithelial cell marker in canine mammary tissuesA Gama
Department of Pathology and Veterinary Clinics, University of Trás os Montes e Alro Douro, Vila Real, Portugal
Vet Pathol 40:412-20. 2003..b>p63, a recently characterized p53 homologue, is consistently expressed in myoepithelial cells of the human breast; ..
- Binding of RPE65 fragments to lipid monolayers and identification of its partners by glutathione S-transferase pull-down assaysEric Trudel
Unité de recherche en ophtalmologie, Universite Laval, Quebec, Quebec, Canada G1V 4G2
Biochemistry 45:3337-47. 2006b>RPE65 is the major component of the retinal pigment epithelium (RPE) microsomal membrane, and it plays a critical role in the binding of retinoids involved in the visual cycle...
- Expression profiles of p53, p63, and p73 in benign salivary gland tumorsAnette Weber
Department of Oto Rhino Laryngology, Head and Neck Surgery, University of Leipzig, Germany
Virchows Arch 441:428-36. 2002..protein p53 has recently been shown to belong to a family that includes two structurally related proteins, p63 and p73...
- p63-expressing cells are the stem cells of developing prostate, bladder, and colorectal epitheliaJean Christophe Pignon
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 110:8105-10. 2013The tumor protein p63 (p63), and more specifically the NH2-terminal truncated (ΔN) p63 isoform, is a marker of basal epithelial cells and is required for normal development of several epithelial tissues, including the bladder and ..
- p40 (ΔNp63) and keratin 34βE12 provide greater diagnostic accuracy than p63 in the evaluation of small cell lung carcinoma in small biopsy samplesKelly J Butnor
The University of Vermont Fletcher Allen Health Care, Burlington, VT 05401, USA
Hum Pathol 44:1479-86. 2013The use of p63 has been advocated for separating small cell lung carcinoma from poorly differentiated non-small cell lung carcinoma, in particular, squamous cell lung carcinoma...
- Immunohistochemical expression of p63, p53 in urinary bladder carcinomaAli Koyuncuer
Department of Pathology, Goztepe Research and Training Hospital, Istanbul, Turkey
Indian J Pathol Microbiol 56:10-5. 2013..Urothelial carcinomas (UC) is of the most common cancers urinary bladder...
- Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patientsFei Xu
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
Mol Vis 18:744-50. 2012Retinal pigment epithelium-specific protein 65 kDa (RPE65) plays an essential role in vitamin A metabolism necessary for synthesizing the visual pigment 11-cis-retinal chromophore...
- Characterization of specific p63 and p63-N-terminal isoform antibodies and their application for immunohistochemistryMarta Nekulova
Regional Centre for Applied Molecular Oncology, Masaryk Memorial Cancer Institute, Zluty kopec 7, 656 53 Brno, Czech Republic
Virchows Arch 463:415-25. 2013..Immunohistochemistry for p63 has clinical value for certain tumour types, but investigations have been hampered by a lack of well characterized ..
- Role of CD10, wide-spectrum keratin, p63, and podoplanin in the distinction of epithelioid and spindle cell tumors of the skin: an immunohistochemical study of 81 casesJ Noelle Buonaccorsi
Department of Dermatopathology and the Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Am J Dermatopathol 34:404-11. 2012..We evaluated the utility of a battery of immunohistochemical markers, including podoplanin (D2-40), CD10, p63, and wide-spectrum cytokeratin, for distinguishing cutaneous epithelioid and spindle cell tumors...
- p63 cytoplasmic aberrance is associated with high prostate cancer stem cell expressionParanita Ferronika
Department of Pathology, Faculty of Medicine, Gadjah Mada University, Indonesia
Asian Pac J Cancer Prev 13:1943-8. 2012..stem cell or reserve cell populations in several epithelia including prostate has been shown to be regulated by p63 and alteration of p63 expression is considered to have an oncogenic role in prostate cancer...
- p63, CK7, PAX8 and INI-1: an optimal immunohistochemical panel to distinguish poorly differentiated urothelial cell carcinoma from high-grade tumours of the renal collecting systemJason C Carvalho
Department of Pathology, University of Michigan Medical Center, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0602, USA
Histopathology 60:597-608. 2012..Accurate classification, especially the distinction of UC from RCC, is critical, as therapeutic approaches differ...
- Putative function of TAP63α during endochondral bone formationFeifei Li
Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, USA
Gene 495:95-103. 2012b>P63, a member of the P53 tumor suppressor family, is known to play important functions in cancer and development...
- Structure and kinetic stability of the p63 tetramerization domainEviatar Natan
Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK
J Mol Biol 415:503-13. 2012The p53 family of transcription factors--comprising p53, p63 and p73--plays an important role in tumor prevention and development...
- Expression of the p53 homologues p63 and p73 in multiple simultaneous gastric cancerA Tannapfel
Institute of Pathology, University of Leipzig, Germany
J Pathol 195:163-70. 2001..protein p53 has recently been shown to belong to a family that includes two structurally related proteins, p63 and p73...
- P63 differentiates subtypes of nonsmall cell carcinomas of lung in cytologic samples: implications in treatment selectionMerce Jorda
Jackson Memorial Hospital, Miami, Florida
Cancer 117:46-50. 2009..The aim of this study was to identify the value of p63 immunocytochemical analysis in this distinction.
- Gene therapy following subretinal AAV5 vector delivery is not affected by a previous intravitreal AAV5 vector administration in the partner eyeWensheng Li
Eye Hospital, School of Optometry and Ophthalmology, Wenzhou Medical College, Wenzhou, China
Mol Vis 15:267-75. 2009..vector transduction is altered by a previous intravitreal injection in the partner eye and more importantly whether therapeutic efficiency is altered in the rd12 mouse (with a recessive RPE65 mutation) after the same injection series.
- Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65Yusuke Takahashi
Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
J Biol Chem 284:3211-8. 2009b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...
- Maspin, p53, p63, and Ki-67 in epithelial lesions of the tongue: from hyperplasia through dysplasia to carcinomaMarilena Vered
Department of Oral Pathology and Oral Medicine, School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel
J Oral Pathol Med 38:314-20. 2009..hyperplasia (HP), mild dysplasia (MD), moderate-to-severe dysplasia (MSD) and squamous cell carcinoma (SCC)] was investigated and correlated to the expression of maspin-regulating factors p53 and p63, and the proliferation marker Ki-67.
- [CXCR4 combined with P504S or P63 in differential diagnosis of benign and malignant prostatic diseases]Feng Qu
Department of Urology, Drum Tower Hospital Affiliated to Nanjing University School of Medicine, Nanjing, Jiangsu 210008, China
Zhonghua Nan Ke Xue 14:1059-62. 2008To evaluate the application of CXC chemokine receptor-4 (CXCR4) combined with alpha-methylacyl-CoA racemase (P504S) or P63 protein in the differential diagnosis of benign and malignant prostatic diseases.
- Aberrant cytoplasmic expression of p63 and prostate cancer mortalityPreet K Dhillon
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Cancer Epidemiol Biomarkers Prev 18:595-600. 2009Protein expression of p63 is used to differentiate prostate cancer from benign mimickers...
- Defining the residual vision in leber congenital amaurosis caused by RPE65 mutationsSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 50:2368-75. 2009To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations.
- Evaluation of 9-cis-retinyl acetate therapy in Rpe65-/- miceTadao Maeda
Departments of Pharmacology
Invest Ophthalmol Vis Sci 50:4368-78. 2009Mice lacking retinal pigment epithelium-specific 65-kDa protein (RPE65) develop retinopathy and blindness resembling Leber congenital amaurosis...
- Mechanism of p63-Dependent Tumor SuppressionXinbin Chen; Fiscal Year: 2012DESCRIPTION (provided by applicant): P63 is a member of the p53 family. When the upstream promoter is used for p63 expression, three major TAp63 isoforms, TAp63a, TAp63[unreadable], and TAp63?, are produced...
- Mechanism of p73-dependent tumor suppressionXinbin Chen; Fiscal Year: 2013..tumor burdens and metastasis rates, which are compounded in mice harboring heterozygous alleles of p53 and/or p63. However, p73 is not a classic tumor suppressor since mutant mice are also prone to developmental defects, chronic ..
- Transcriptional regulation of oncogenic properties of mutant p53Luis Alfonso Martinez; Fiscal Year: 2013..the first involves the physical inactivation of other tumor suppressor proteins such as its family members, p63 and p73, and the other is dependent on its ability to regulate gene expression...
- ROLES AND REGULATION OF P53Carol Prives; Fiscal Year: 2013..an interdisciplinary and collaborative approach to understand the roles of mutant p53, p53 family member's p63 and p73 and new tumor suppressor genes in cancer...
- Human Osteoprogenitor Control by Hepatocyte Growth Factor and Vitamin DGuy Howard; Fiscal Year: 2013..Data shows that p63, a member of the p53 family of transcription factors, plays a major role in the cooperative actions of HGF and 1,..
- REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMISDENNIS ROOP; Fiscal Year: 2010..We have recently demonstrated that the transcription factor p63 is the molecular switch for initiation of the epidermal stratification program...
- Molecular etiology of cervicovaginal adenosis by in utero hormone exposureTakeshi Kurita; Fiscal Year: 2013..demonstrated that developmental exposure to DES induces cervical/vaginal adenosis by disrupting expression of p63 transcription factor, which is essential for development of squamous epithelia...
- Novel Genetic Models to Study the Role of DNp63 in Squamous Cell CarcinomaRose Anne Romano; Fiscal Year: 2013..sequencing data emerging from the Cancer Genome Atlas Project, strongly suggest that the transcription factor p63, specifically the most prevalent Np63 isoforms, function as an oncogene in the early stages of SCC development...
- Elucidating the transcriptional network in p63 expressing mammary myoepitheliumSatrajit Sinha; Fiscal Year: 2013..This is epitomized by the striking phenotype of the p63 knockout mice, which lack a mature stratified epidermis and exhibit a block in development of multiple ectodermal ..
- The role of p63 in hair follicle stem cells and cancerMaranke I Koster; Fiscal Year: 2013DESCRIPTION (provided by applicant): The p63 gene encodes several transcription factors that are required for normal development and homeostasis of the skin and its appendages...
- Cellular and molecular biology of lung surfactantAron B Fisher; Fiscal Year: 2013..This project provides novel information on P63 as a biologically-relevant SP-A receptor...
- Topical delivery of nanoencapsulated plasmid DNA to posterior ocular targetsGretchen M Unger; Fiscal Year: 2012..LCA2 mouse models are useful because they have severe vision deficits due to simple lack of a single gene product (RPE65), yet they have delayed morphological degeneration...
- PREVENTION OF QUINONE TOXICITY AND MUTAGENICITYANIL KUMAR JAISWAL; Fiscal Year: 2013..that NQO1 and NQO2 stabilization of tumor suppressor p53 against 20S proteasome degradation and down regulation of p63 and MAPK pathway contributed to carcinogenesis...
- Clinical trials of gene therapy for Leber congenital amaurosisSAMUEL GREGORY JACOBSON; Fiscal Year: 2013..gene delivery to the retina of patients with blindness from Leber congenital amaurosis (LCA) and mutations in the RPE65 (retinal pigment epithelium-specific protein 65-kDa) gene...
- Osteogenic Maturation and Bone Repair Require 1,25- and 24,25-dihydroxyvitamin DKEVIN MATTHEW CURTIS; Fiscal Year: 2012..During murine development, the transcription factor p63 is required for skeletal formation, and our recent work demonstrated that p63 is integral for hepatocyte growth ..
- Chromophore Effects in Genetically Diverse Forms of Retinal DystrophyDebra A Thompson; Fiscal Year: 2010..In individuals with mutations in the retinoid isomerase gene RPE65, compelling outcomes were obtained using gene therapy approaches that increase retina levels of the chromophore 11-..
- REGULATION OF NEUROGENESIS IN OLFACTORY EPITHELIUMJames E Schwob; Fiscal Year: 2013..Recently, we have shown that the transcription factor p63 is key to HBC differentiation and regeneration...
- PROGRAMS OF GENE EXPRESSION IN OLFACTORY NEUROGENESISJOHN J NGAI; Fiscal Year: 2013..In this application we propose to investigate the role of the transcription factor p63 - a member of the p53 family of tumor suppressors - in olfactory stem cell regulation...
- Novel Photoreceptor Proteins and Retinal DegenerationsEric A Pierce; Fiscal Year: 2013..patients'IRD has become especially important with the recent success of clinical trials of gene therapy for RPE65 Leber congenital amaurosis (LCA)...
- RETINOIDS IN VISIONKRZYSZTOF NMI PALCZEWSKI; Fiscal Year: 2013..use a number of biophysical and biochemical techniques to characterize the structure and catalytic mechanism of RPE65, the enzyme responsible for transforming all-trans-retinyl esters to 11-cis-retinol...
- Novel Genetic Approach To Isolate Stem Cells Of The Oral CavitySatrajit Sinha; Fiscal Year: 2012..Recent studies have offered compelling evidence in support of the transcription factor p63, particularly the ?Np63 isoform, to be highly expressed in the stem cell compartment of the stratified squamous ..
- MOLECULAR PROGRESSION MODEL FOR HNSCCDavid Sidransky; Fiscal Year: 2012..Specific tumor suppressor genes, including p14 and p16, and proto-oncogenes, including p63, have been identified as critical in oral cancer development...
- Olfactory Epithelial Stem Cell Regulation by the Transcription Factor p63Nikolai Schnittke; Fiscal Year: 2013..The transcription factor p63, a member of the p53 family, is necessary for the embryonic appearance of HBCs and loss of p63 expression in the ..
- Functional analysis of the p53 tumor suppressorMoshe Oren; Fiscal Year: 2012..genes in a manner leading to transcriptional silencing, explore the possibility that dominant negative forms of p63, a p53 family member, are responsible for the failure of p53 to function as an effective tumor suppressor in some ..
- Genetics of Meiosis and Recombination in MiceJohn C Schimenti; Fiscal Year: 2013..We also found that both programmed and induced DSBs trigger CHK2-dependent phosphorylation of p63 (TRP63) in diplotene oocytes...
- Translational Research for Retinal Degeneration TherapiesGUSTAVO DAVID AGUIRRE; Fiscal Year: 2013..of a longstanding collaboration between the module scientists that already has brought retinal gene therapy for RPE65-LCA patients to a Phase I clinical trial...
- p63 and p73 Signaling in Cell Growth and CancerJennifer A Pietenpol; Fiscal Year: 2013Although the pivotal role of p53 in tumor suppression remains unchallenged, the role of its family members, p63 and p73 in normal cell function and tumorigenesis is far from certain...
- Roles of p63 in regulation of miRNA and LincRNA targets in metastatic cancerElsa R Flores; Fiscal Year: 2013..The functions of p63, a p53 family member, are beginning to be understood in contexts in which p53 function has been well established, ..
- Optimizing systemic stem/progenitor cell therapy for AMDMARIA BARTOLOMEO GRANT; Fiscal Year: 2013..To address these limitations, we have made a number of exciting discoveries: 1) forced expression of the RPE65 gene allows mouse hematopoietic stem cells (mHSC), when injected back into the circulation, to home to the retina ..
- Cone Opsin-Ligand Interactions and Photoreceptor HealthMasahiro Kono; Fiscal Year: 2013..In Leber Congenital Amaurosis type 2 (LCA2), generation of the native chromophore of visual pigments (11-cis retinal) is inhibited...
- The Role of Muller Cells in Visual Pigment RegenerationGabriel H Travis; Fiscal Year: 2013..The rate of retinol isomerization by DES1 is 300-fold faster than the rate of isomerization catalyzed by Rpe65 of the RPE Visual Cycle...
- Mechanisms of Delta-N-p63-alpha transcriptional repression and its role in squamoCORRIE LYNN GALLANT-BEHM; Fiscal Year: 2013....
- Vitreal delivery of novel AAV vectors for CNGA3 achromatopsia cone gene therapyJijing Pang; Fiscal Year: 2013..the IV injection option is based on recently published results for 15 patients from the current NEI sponsored LCA2 clinical trial (NCT00481546)...
- Mechanisms regulating prostate epithelium maintenance and regenerationSabina Signoretti; Fiscal Year: 2013..The p63 gene is selectively expressed in basal cells of various epithelia and is required for epithelial development...
- Phase 1/2 Trial of rAAV2-CB-hRPE65 (BB-IND 13848, 11 Sep 2009) for Leber CongenitJeffrey D Chulay; Fiscal Year: 2013..approximately 8 to 10% are caused by mutations in a gene encoding a retinal pigment epithelium-specific 65 kDa (RPE65) protein...
- Carotinoids in VisionJOHANNES FRIEDERICH VONLINTIG; Fiscal Year: 2013..key recycling reaction, namely trans-to-cis isomerization, depends on the retinal pigmented epithelium protein, RPE65. Mutations in RPE65 lead to a spectrum of retinal dystrophies ranging from Leber congenital amaurosis (LCA) to ..
- Regulation of normal and Leber congenital amaurosis-associated RPE65sMinghao Jin; Fiscal Year: 2013..We have identified RPE65, a retinal pigment epithelium (RPE) specific membrane-associated protein, as the retinoid isomerase...
- Cone opsins in photoreceptor degenerationYingbin Fu; Fiscal Year: 2013DESCRIPTION (provided by applicant): Retinoid isomerase, RPE65, and Lecithin-retinol acyltransferase (LRAT) are important in recycling 11-cis- retinal in retinal pigment epithelium (RPE)...
- Regulation of Mutant P53 Expression and Oncogenic ActivityXinbin Chen; Fiscal Year: 2013..e., p63 and p73), which would then enhance gain of function for these p53 mutants...
- Life Cycle of Human PapillomavirusesLaimonis A Laimins; Fiscal Year: 2013..Additional important activities identified for E6 include blocking of p300 acetylation of p53 and activation of p63 upon differentiation...
- STUDIES OF RPE65Jian Xing Ma; Fiscal Year: 2013..b>RPE65 is a membrane-associated protein predominantly expressed in the retinal pigment epithelium (RPE)...
- Cytoplasmic Reactivation of p53 Family MembersCharles Walker; Fiscal Year: 2004..leukemia in the soft-shell clam, Mya arenaria, in which clam homologs that we have identified for human p53 and p63/73 proteins are rendered non-functional by their sequestration in the cytoplasm of leukemic clam hemocytes...
- Retinyl Ester Binding Proteins and the Visual CycleRobert Rando; Fiscal Year: 2007..Mutations in RPE65 are known to cause a form of retinyl degeneration. It is only the membrane associated form (mRPE65) which stereospecifically binds tREs and the soluble form of this protein (sRPE65) is shown to stereospecifically ..
- Novel Vaginal Microbicides Based On Stable AAV-Neutralizing Antibody Gene TransfeWayne A Marasco; Fiscal Year: 2010..comprising endocervical, ectocervical and vaginal epithelial cells with special focus on stable gene transfer into p63+CK17+epithelial stem cells which are capable of renewing stratified epithelium...
- Novel Vaginal Microbicides Based On Stable AAV-Neutralizing Antibody Gene TransfeWayne Marasco; Fiscal Year: 2009..comprising endocervical, ectocervical and vaginal epithelial cells with special focus on stable gene transfer into p63+CK17+epithelial stem cells which are capable of renewing stratified epithelium...
- Cortical Structure and Function in Blindness and following Restored VisionGeoffrey Karl Aguirre; Fiscal Year: 2013..In a population of patients with blindness from RPE65-LCA, we will further determine which of these measures are modified by successful retinal gene therapy to restore ..
- RETINAL PATHOPHYSIOLOGY OF INFANTS AND ADULTSDavid Birch; Fiscal Year: 2005..As in the abcr-/- and rpe65-/- models, these studies should help clarify the underlying defect and lead to pharmaceutical interventions...
- p63-Dependent Checkpoints in OocytesFrank D McKeon; Fiscal Year: 2010..How DNA damage triggers the death of these arrested oocytes is poorly understood but we now know that p63, a homolog of the p53 tumor suppressor, is highly expressed in these oocytes and plays an essential role in their ..
- Biochemical and Genetic Analysis of the Visual CycleGABRIEL TRAVIS; Fiscal Year: 2009..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
- RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUSWilliam Hauswirth; Fiscal Year: 2009..disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
- Cytokines Stimulate Prostate Epithelial ProliferationWade Bushman; Fiscal Year: 2009..and demonstrate that these inflammatory mediators promote epithelial growth and a selective expansion of p63+ epithelial cells...